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Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis

✍ Scribed by Terespolsky, D. ;Farrell, S. A. ;Siegel-Bartelt, J. ;Weksberg, R.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
487 KB
Volume
59
Category
Article
ISSN
0148-7299

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✦ Synopsis


to Xq27. It is not known whether severe, familial cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(S).